Association of an extended haplotype in the tau gene with progressive supranuclear palsy
Association of an extended haplotype in the tau gene with progressive supranuclear palsy
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DOI：
10.1093/hmg/8.4.711
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发表时间：
1999-04-01
影响因子：
3.5
通讯作者：
Hutton, M
中科院分区：
文献类型：
--
作者：
Baker, M;Litvan, I;Hutton, M
我们描述了两个扩展的单倍型，涵盖人类tau基因。在总共约200个无关的白种人个体中，跨越该基因的多态性（其覆盖约100 kb的DNA）之间存在完全不平衡，这表明两种单倍型的建立是一个古老的事件，并且要么重组在该区域被抑制，要么重组基因被选择。此外，我们发现更常见的单倍型（H1）在进行性核上性麻痹（PSP）患者中明显过度表达，扩展了早期关于内含子二核苷酸多态性与PSP之间相关性的报道。
We describe two extended haplotypes that cover the human tau gene. In a total of similar to 200 unrelated caucasian individuals there is complete disequilibrium between polymorphisms which span the gene (which covers similar to 100 kb of DNA), This suggests that the establishment of the two haplotypes was an ancient event and either that recombination is suppressed in this region, or that recombinant genes are selected against. Furthermore, we shaw that the more common haplotype (H1) is significantly over-represented in patients with progressive supranuclear palsy (PSP), extending earlier reports of an association between an intronic dinucleotide polymorphism and PSP.